Dubin-Johnson / Rotor Syndrome

A 22-year-old motorcycle accident victim with unknown past medical history is brought into the ED with severe head injuries. He is stabilized and brought to the surgical ICU where he is deemed to be brain dead by both the intensivist and neurosurgery staff. The organ transplant team is contacted and determine that he is an eligible kidney donor. However, he is not eligible for liver donation. Upon entering the abdomen during harvest, the team notices that his liver is black.

Introduction

Hereditary conjugated hyperbilirubinemia

↓ hepatic excretion of conjugated bilirubin

Two types

Dubin-Johnson syndrome (DJS)

grossly black liver due to impaired excretion of epinephrine metabolites

benign

autosomal recessive

Rotor's syndrome

even milder than Dubin-Johnson

does not cause black liver

Presentation

Symptoms

most patients asymptomatic

Physical exam

may become jaundiced or icteric during pregnancy or with oral contraceptives

Evaluation

Labs

may show direct hyperbilirubinemia (usually 2-5 mg/dL) and resulting increased total bilirubin in DJS

coproporphyrin III:coproporphyrin I ratio 1:3-4 (opposite of this is normal)

total urine coproporphyrin levels

elevated in Rotor's

normal in DJS

Gross pathology

dark black liver in DJS

Treatment

Medical management

no treatment is needed

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(M1.GI.24)
A 14-year-old boy who recently immigrated to the US is brought to the pediatrician by his mother because she has noticed a recent color change in his eyes as demonstrated in Figure A. She is concerned because he has never had significant medical care in his life. Otherwise the boy has no complaints and states that he feels fine. The pediatrician obtains labs which demonstrate: total bilirubin: 5 mg/dL, direct bilirubin 4.5 mg/dL, indirect bilirubin 0.5 mg/dL, AST: 15, ALT: 20, GGT: 10. A liver biopsy is subsequently obtained which is demonstrated in Figure B. Which of the following is the most likely diagnosis for this patient?
Review Topic